Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 3 | 101304277 | missense variant | A/G | snv | 6.4E-05 | 4.2E-05 |
|
0.800 | 1.000 | 3 | 2010 | 2017 | |||||||
|
0.925 | 0.080 | 3 | 101232784 | missense variant | C/A | snv | 8.0E-06 |
|
0.800 | 0 | |||||||||||
|
0.925 | 0.040 | 3 | 101242820 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.040 | 3 | 101304904 | intron variant | A/G | snv | 0.40 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 3 | 101304904 | intron variant | A/G | snv | 0.40 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 101244651 | stop gained | A/G;T | snv | 2.4E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
3 | 101244651 | stop gained | A/G;T | snv | 2.4E-05 | 2.1E-05 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 3 | 101243905 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 3 | 101244505 | frameshift variant | A/- | del |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 3 | 101319800 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 3 | 101320286 | splice donor variant | A/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 3 | 101242894 | missense variant | A/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 3 | 101231117 | stop gained | G/A | snv | 3.6E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 3 | 101304277 | missense variant | A/G | snv | 6.4E-05 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 3 | 101275694 | stop gained | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 3 | 101275694 | stop gained | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 3 | 101242820 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 3 | 101243615 | stop gained | G/A | snv | 3.2E-05 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 101232983 | splice region variant | -/TTCATCACCTAAAA | delins | 1.6E-05 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 3 | 101291499 | stop gained | A/C | snv | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
3 | 101320304 | frameshift variant | -/T | delins | 4.0E-06 |
|
Eye Diseases | 0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 101242782 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 101244057 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
3 | 101228876 | stop gained | C/A | snv | 1.6E-05 | 1.4E-05 |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
3 | 101243918 | frameshift variant | AC/- | delins |
|
Eye Diseases | 0.700 | 0 |